A chemical chaperone improves muscle function in mice with a RyR1 mutation

Article English OPEN
Lee, Chang Seok ; Hanna, Amy D. ; Wang, Hui ; Dagnino-Acosta, Adan ; Joshi, Aditya D. ; Knoblauch, Mark ; Xia, Yan ; Georgiou, Dimitra K. ; Xu, Jianjun ; Long, Cheng ; Amano, Hisayuki ; Reynolds, Corey ; Dong, Keke ; Martin, John C. ; Lagor, William R. ; Rodney, George G. ; Sahin, Ergun ; Sewry, Caroline ; Hamilton, Susan L. (2017)
  • Publisher: Nature Publishing Group
  • Journal: Nature Communications, volume 8 (eissn: 2041-1723)
  • Related identifiers: pmc: PMC5376670, doi: 10.1038/ncomms14659
  • Subject: Article
    mesheuropmc: musculoskeletal system

Mutations in the RYR1 gene cause severe myopathies. Mice with an I4895T mutation in the type 1 ryanodine receptor/Ca2+ release channel (RyR1) display muscle weakness and atrophy, but the underlying mechanisms are unclear. Here we show that the I4895T mutation in RyR1 de... View more